The river of frequent rare variants

The flow of exome sequencing papers amounts to a small river.  In the most recent  work of general interest researchers captained by Bamshad and Akey from the University of Washington sifted for rare mutations in 63.4 terabases of exome sequences.  Next to whole genome sequencing the current output will feel like a trickle but their census yields about 300 mutations per genome that current methods for function prediction consider important and a strong bias on ancestry. Nature News has a fairly dry summary of the results.

Everyone’s genomes are awash with rare variants. The fact alone won’t surprise no one in the field but hopefully drown the claims that these are problems with current sequencing technologies such as statistical artefacts.

This plethora of rare variants will make interpretation of results from exome sequencing studies challenging, but also indicates that large consortiums like EuroEPINOMICS are necessary to navigate this stream of rare variants.

Roland Krause

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